Turner syndrome-omphalocele association: Incidence,karyotype, phenotype and fetal outcome

Objective

Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith–Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes.

Method

Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound.

Results

680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive.

Conclusion

TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.     

Carbon Budget Implications of the Transition from Natural to Managed Disturbance Regimes in Forest Landscapes

Land-use change from an unmanaged to a managed forested landscape in northern forests is associated with a reduction of the area annually affected by natural disturbances (wildfires and forest insects) and the introduction of harvesting as a new disturbance. This study examined the impacts of changes in the disturbance regime-the frequency and type of disturbance-on landscape-level carbon (C) content and fluxes. The Carbon Budget Model of the Canadian Forest Sector was used to assess these impacts in six representative landscapes (100,000 ha each) with a range of disturbance regimes that are characteristic of conditions in coastal British Columbia, the interior of British Columbia, and the eastern boreal forest in Canada. The model was used to simulate ecosystem C fluxes during a period of natural disturbances, a 50-year transition period during which harvesting replaced natural disturbances, followed by 150 years of harvesting. The initial landscape-level biomass C content under natural disturbance regimes in the six example landscapes was 22 to 75% of their potential maximum content which is often used as the reference or baseline case. After 200 years of forest management, the C stored in the landscape plus the C retained in forest products manufactured from harvested biomass was between 58 and 101% of the landscape C content prior to the onset of harvesting. Landscape-level ecosystem C content was found to be affected by changes in the disturbance frequency, the age-dependence of the disturbance probabilities, and the disturbance-specific impacts on ecosystem C content. The results indicate that using the potential maximum C content of a landscape as the baseline always overestimates the actual C release due to land use change. A more meaningful procedure would be to assess the actual differences in landscape-level C content between the natural and the managed disturbance regime.     

Sustainable biofuels from algae

There is currently great interest in microalgae as sources of renewable energy and biofuels. Many algae species have a high lipid content and can be grown on non-arable land using alternate water sources such as seawater. This paper discusses in detail the issue of sustainability of commercial-scale microalgae production of biofuels with particular focus on land, water, nutrients (N and P) and CO₂ requirements and highlights some of the key issues in the very large scale culture of microalgae which is required for biofuels. The use of genetically modified algae is also considered.     

Relationships between regulated DBPs and emerging DBPs of health concern in U.S. drinking water

A survey was conducted at eight U.S. drinking water plants, that spanned a wide range of water qualities and treatment/disinfection practices. Plants that treated heavily-wastewater-impacted source waters had lower trihalomethane to dihaloacetonitrile ratios due to the presence of more organic nitrogen and HAN precursors. As the bromide to total organic carbon ratio increased, there was more bromine incorporation into DBPs. This has been shown in other studies for THMs and selected emerging DBPs (HANs), whereas this study examined bromine incorporation for a wider group of emerging DBPs (haloacetaldehydes, halonitromethanes). Moreover, bromine incorporation into the emerging DBPs was, in general, similar to that of the THMs. Epidemiology studies that show an association between adverse health effects and brominated THMs may be due to the formation of brominated emerging DBPs of heath concern. Plants with higher free chlorine contact times before ammonia addition to form chloramines had less iodinated DBP formation in chloraminated distribution systems, where there was more oxidation of the iodide to iodate (a sink for the iodide) by the chlorine. This has been shown in many bench-scale studies (primarily for iodinated THMs), but seldom in full-scale studies (where this study also showed the impact on total organic iodine. Collectively, the THMs, haloacetic acids, and emerging DBPs accounted for a significant portion of the TOCl, TOBr, and TOI; however, ∼50% of the TOCl and TOBr is still unknown. The correlation of the sum of detected DBPs with the TOCl and TOBr suggests that they can be used as reliable surrogates.     

A life cycle comparison of greenhouse emissions for power generation from coal mining and underground coal gasification

Underground coal gasification (UCG) is an advancing technology that is receiving considerable global attention as an economic and environmentally friendly alternative for exploitation of coal deposits. UCG has the potential to decrease greenhouse gas emissions (GHG) during the development and utilization of coal resources. In this paper, the life cycle of UCG from in situ coal gasification to utilization for electricity generation is analyzed and compared with coal extraction through conventional coal mining and utilization in power plants. Four life cycle assessment models have been developed and analyzed to compare (greenhouse gas) GHG emissions of coal mining, coal gasification and power generation through conventional pulverized coal fired power plants (PCC), supercritical coal fired (SCPC) power plants, integrated gasification combined cycle plants for coal (Coal-IGCC), and combined cycle gas turbine plants for UCG (UCG-CCGT). The analysis shows that UCG is comparable to these latest technologies and in fact, the GHG emissions from UCG are about 28 % less than the conventional PCC plant. When combined with the economic superiority, UCG has a clear advantage over competing technologies. The comparison also shows that there is considerable reduction in the GHG emissions with the development of technology and improvements in generation efficiencies.     

Greenhouse gas mitigation and offset options for suckler cow farms: an economic comparison for the Swiss case

We assessed the economic suitability of 4 greenhouse gas (GHG) mitigation options and one GHG offset option for an improvement of the GHG balance of a representative Swiss suckler cow farm housing 35 Livestock units and cultivating 25 ha grassland. GHG emissions per kilogram meat in the economic optimum differ between the production systems and range from 18 to 21.9 kg CO₂-eq./kg meat. Only GHG offset by agroforestry systems showed the potential to significantly reduce these emissions. Depending on the production system agroforestry systems could reduce net GHG emissions by 66% to 7.3 kg CO₂-eq./kg meat in the most intensive system and by 100% in the most extensive system. In this calculation a carbon sequestration rate of 8 t CO₂/ha/year was assumed. The potential of a combination of the addition of lipids to the diet, a cover of the slurry tank and the application of nitrification inhibitors only had the potential to reduce GHG emissions by 12% thereby marginal abatement costs are increasing much faster than for agroforestry systems. A reduction of the GHG emissions to 7.5 kg CO₂-eq./kg meat—possible with agroforestry only—raised costs between 0.03 CHF/kg meat and 0.38 CHF/kg meat depending on the production system and the state of the system before the reduction. If GHG emissions were reduced maximally average costs ranged between 0.37 CHF/kg meat, if agroforestry had the potential to reduce net GHG emissions to 0 kg CO₂-eq., to 1.17 CHF/kg meat if also other options had to be applied.     

Collectively engaging complex socio-ecological systems: re-envisioning science, governance, and the California Delta

We address the future of science and governance for the California Delta, focusing on the CALFED Bay-Delta Program, an interagency, multi-stakeholder effort to understand and manage the Delta for multiple purposes. We portray a Delta history as a coevolutionary process between science, governance and ecosystems. Global integrated environmental assessments (IEA) provide insights into understanding complex, dynamic socio-ecological systems. Many of the discursive stakeholder and scientific activities that have arisen under CALFED are similar to IEA and remain essential to the shared learning needed to effectively interact with a dynamic Delta. More deliberately enmeshing environmental monitoring, analysis, and collective learning into Delta governance will improve outcomes.     

Prenatal diagnosis,fetal pathology,and cytogenetic analysis of mosaic trisomy 14

While true mosaicism occurs in only 0–25 per cent of genetic amniocenteses, nearly 2–5 per cent of amniotic fluid cell cultures contain a second cell line. In the common practice of prenatal diagnosis, an aberrant cell line confined to a single colony is usually disregarded. We present a case of mosaic trisomy 14 which was not detected on initial chromosome analysis. At birth, multiple malformations were apparent. Newborn cytogenetic studies revealed mosaicism [46,XX/46,XX,-14,+i(14q)] with an isochromosome 14 in 37 per cent of lymphocytes. Additional cells from the initial amniotic fluid culture were analysed post-delivery and the isochromosome 14 identified in only one of 12 total colonies. This case illustrates two important lessons in prenatal diagnosis. First, amniotic fluid cell cultures may not accurately reflect the relative distribution of the normal and abnormal cell lines within a mosaic fetus. Second, while it is generally reasonable to disregard mosaicism confined to a single colony, this policy will, on rare occasion, result in diagnostic error. This should be taken into consideration, particularly when dealing with autosomal trisomies potentially compatible with livebirth.     

Amniotic fluid fibrinolytic system in fetal neural tube defects

Second trimester amniotic fluid fibrinolytic system was examined in normal pregnancies and those complicated by anencephaly, spina bifida and fetal chromosome abnormalities. No significant difference was demonstrated between the fibrinolytic systems from normal pregnancies and those complicated by fetal chromosome abnormalities. In pregnancies complicated with anencephaly and spina bifida no significant difference was demonstrated for alpha-1-antitrypsin, alpha-1-antichymotrypsin and urokinase. Plasminogen was significantly lower (p < 0.02) and plasmin significantly higher (p < 0.001) than levels from normal amniotic fluid. Alpha-2-macroglobulin, fibrinogen, FDP-D and FDP-E were detected only in pregnancies complicated with anencephaly and spina bifida.